Genetic Analysis of LRRK1 and LRRK2 Variants in Essential Tremor Patients

Aims: Essential tremor (ET) is one of the most common adult-onset movement disorders. ET and Parkinson's disease (PD) overlap clinically and pathologically, which prompted this investigation into the association of PD risk variants in ET patients. This study was designed to explore the role of variants of two PD-related genes LRRK1 and LRRK2 in a Han Chinese ET population. Materials and Methods: Genetic analysis of LRRK1, rs2924835, and LRRK2, rs34594498, rs34410987, and rs33949390 variants was conducted on 200 Han Chinese patients with ET and 434 ethnically matched normal controls. Results: No statistically significant differences were identified in either genotypic or allelic frequencies of variants between the ET patients and the control cohort (all p>0.05). Haplotype analysis of three LRRK2 variants (rs34594498, rs34410987, and rs33949390) showed no haplotypes displayed an association with ET risk (all p>0.05). Conclusions: The data suggest that LRRK1 variant (rs2924835) and LRRK2 variants (rs34594498, rs34410987, and rs33949390) are not associated with ET in this Han Chinese population.

目的：特发性震颤（ET）是最常见的成人发病的运动障碍之一。ET和帕金森病（PD）在临床和病理上存在重叠，这促使了对ET患者中帕金森病风险变异的关联性进行研究。本研究旨在探讨两个与帕金森病相关的基因LRRK1和LRRK2的变异在汉族ET人群中的作用。 材料和方法：对200名汉族ET患者和434名种族匹配的正常对照进行了LRRK1（rs2924835）以及LRRK2（rs34594498、rs34410987和rs33949390）变异的基因分析。 结果：在ET患者和对照组之间，变异的基因型频率和等位基因频率均未发现有统计学意义的差异（所有p>0.05）。对三个LRRK2变异（rs34594498、rs34410987和rs33949390）进行的单倍型分析显示，没有单倍型与ET风险相关（所有p>0.05）。 结论：数据表明，在这个汉族人群中，LRRK1变异（rs2924835）以及LRRK2变异（rs34594498、rs34410987和rs33949390）与ET无关。